Canonical Allele Identifier: CA159918

Gene: GATA3

Linked Data

• ClinVar Variation Id: 134471
• ClinVar RCV Id: RCV000121153 ; RCV001108532 ; RCV002225381
• dbSNP Id: rs200935603
• ExAC: 10:8115837 G / A
• gnomAD v2: 10-8115837-G-A
• gnomAD v3: 10-8073874-G-A
• gnomAD v4: 10-8073874-G-A
• COSMIC: COSM1163766
• MyVariant Identifiers: chr10:g.8115837G>A (hg19) ; chr10:g.8073874G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073874G>A , CM000672.2:g.8073874G>A	GRCh38
NC_000010.10:g.8115837G>A , CM000672.1:g.8115837G>A	GRCh37
NC_000010.9:g.8155843G>A	NCBI36
NG_015859.1:g.24171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1183G>A	ENSP00000341619.3:p.Ala395Thr
ENST00000379328.9:c.1186G>A MANE Select	ENSP00000368632.3:p.Ala396Thr
ENST00000346208.3:c.1183G>A	ENSP00000341619.3:p.Ala395Thr
ENST00000379328.7:c.1186G>A	ENSP00000368632.3:p.Ala396Thr
ENST00000461472.1:n.705G>A
NM_001002295.1:c.1186G>A	NP_001002295.1:p.Ala396Thr
NM_002051.2:c.1183G>A	NP_002042.1:p.Ala395Thr
XM_005252442.2:c.1186G>A	XP_005252499.1:p.Ala396Thr
XM_005252443.3:c.1186G>A	XP_005252500.1:p.Ala396Thr
XM_005252443.5:c.1186G>A	XP_005252500.1:p.Ala396Thr
NM_001002295.2:c.1186G>A MANE Select	NP_001002295.1:p.Ala396Thr
NM_002051.3:c.1183G>A	NP_002042.1:p.Ala395Thr